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001 | 978-3-662-57577-2 | ||
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_a9783662575772 _9978-3-662-57577-2 |
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_aJIMD Reports, Volume 39 _h[electronic resource] / _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. |
250 | _a1st ed. 2018. | ||
264 | 1 |
_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg : _bImprint: Springer, _c2018. |
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300 |
_aVI, 116 p. 20 illus., 8 illus. in color. _bonline resource. |
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336 |
_atext _btxt _2rdacontent |
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337 |
_acomputer _bc _2rdamedia |
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_aonline resource _bcr _2rdacarrier |
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347 |
_atext file _bPDF _2rda |
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490 | 1 |
_aJIMD Reports, _x2192-8304 ; _v39 |
|
500 | _aAcceso multiusuario | ||
505 | 0 | _aSuccessful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency -- Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases -- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients -- Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency -- Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms -- Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis -- Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat -- Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals -- Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? -- Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers -- Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome] -- Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up -- Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment -- High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB -- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review. | |
520 | _aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. | ||
541 |
_fUABC ; _cTemporal ; _d01/01/2021-12/31/2023. |
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650 | 0 | _aHuman genetics. | |
650 | 0 | _aMetabolic diseases. | |
650 | 0 | _aPediatrics. | |
650 | 0 | _aMolecular biology. | |
650 | 1 | 4 |
_aHuman Genetics. _0https://scigraph.springernature.com/ontologies/product-market-codes/B12008 |
650 | 2 | 4 |
_aMetabolic Diseases. _0https://scigraph.springernature.com/ontologies/product-market-codes/H33118 |
650 | 2 | 4 |
_aPediatrics. _0https://scigraph.springernature.com/ontologies/product-market-codes/H49006 |
650 | 2 | 4 |
_aMolecular Medicine. _0https://scigraph.springernature.com/ontologies/product-market-codes/B1700X |
700 | 1 |
_aMorava, Eva. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt |
|
700 | 1 |
_aBaumgartner, Matthias. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt |
|
700 | 1 |
_aPatterson, Marc. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt |
|
700 | 1 |
_aRahman, Shamima. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt |
|
700 | 1 |
_aZschocke, Johannes. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt |
|
700 | 1 |
_aPeters, Verena. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt |
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710 | 2 | _aSpringerLink (Online service) | |
773 | 0 | _tSpringer Nature eBook | |
776 | 0 | 8 |
_iPrinted edition: _z9783662575765 |
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_iPrinted edition: _z9783662575789 |
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_aJIMD Reports, _x2192-8304 ; _v39 |
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_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-57577-2 |
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